Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855214 | SCV000998264 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15060G>A (YP_003024038.1:p.Gly105Glu) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP7 |
Center for Neuroscience and Cell Biology, |
RCV000408920 | SCV000484539 | likely pathogenic | Epilepsy; Bilateral lesions of basal ganglia | 2016-11-21 | no assertion criteria provided | clinical testing |